| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.16145094A>C | CA362798455 | MYLIP | c.1025A>C (p.Asn342Thr) c.482A>C (p.Asn161Thr) c.860A>C (p.Asn287Thr) | dbSNP |
| 6 | g.16145094A>T | CA362798454 | MYLIP | c.1025A>T (p.Asn342Ile) c.482A>T (p.Asn161Ile) c.860A>T (p.Asn287Ile) | dbSNP |
| 6 | g.16145094A>G | CA3644627 | MYLIP | c.1025A>G (p.Asn342Ser) c.482A>G (p.Asn161Ser) c.860A>G (p.Asn287Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |